This article orignally appeared in the August 27, 2008 issue of the St. Louis Post-Dispatch.

Twin brothers Alexander and Benjamin Zelk naturally have a lot in common. They both like cars, trains, trucks, airplanes and helicopters; reading; and telling funny jokes to each other. However, when the boys were born four years ago, their mom, Leah, knew right away that her fraternal firstborn sons also had a significant difference.

“When the boys were born, Benjamin weighed 6 pounds, 3 ounces, and Alexander was 4 pounds, six ounces, so there was definitely a weight discrepancy,” Leah Zelk said. “And while Benjamin was generally very healthy, Alexander had to spend almost three weeks in the NICU; so we knew right away that something was wrong.”

In addition to his low birth weight, Alexander was having trouble feeding, had an enlarged spleen and gallbladder, and abnormal amounts of enzymes in his liver.

When he was 4 months old, a gastroenterologist in their hometown of Kansas City diagnosed Alexander with Alpha-1 Antitrypsin Deficiency (“Alpha-1” for short), a genetic disease that affects about 100,000 people nationwide.

Alpha-1 Antitrypsin is a protein released by the liver into the blood. It protects a person’s lungs from inflammation due to infection or inhaled irritants, such as smoke. In someone with Alpha-1 Antitrypsin Deficiency, that protein is abnormal, and as a result it builds up in the liver and can cause liver disease. In a patient with Alpha-1, lungs are also more prone to disease, because they do not get enough protein to fight infection.

Unfortunately, fewer than 10 percent of people living with Alpha-1 have been properly diagnosed, because the symptoms mirror other, more common conditions such as asthma or smoking-related Chronic Obstructive Pulmonary Disease.

Of those who are diagnosed, children and adults with Alpha-1 commonly spend years seeing different doctors before they’re given a blood test that confirms Alpha-1. Many, such as Alexander, live healthy lives and show little or no symptoms.

“We were lucky with timing,” Leah Zelk said. “Within a few weeks of Alexander’s diagnosis, we got hooked up with the national Alpha-1 Association, and they led us to Dr. Teckman in St. Louis. Being diagnosed early has helped us be diligent in following recommendations for things that will help him stay healthy.”

Jeffrey Teckman, MD, pediatric gastroenterologist at SSM Cardinal Glennon Children’s Medical Center in St. Louis, is one of the nation’s leading researchers for Alpha-1, and has been studying the disease for 14 years. Last fall, he enrolled the first patient for a national database called Cholestatic Liver Disease Consortium, or CLiC.

Dr. Teckman and other researchers around the country will use the CLiC database, which includes detailed medical history for patients with Alpha-1 and other liver diseases, to develop treatments.

“Research on this topic is pivotal, because it goes toward finding potential therapies,” Dr. Teckman said. “I think we’re still pretty far away from finding a cure, but as for developing better treatments, we’ve actually come a very long way.

“Fourteen years ago, we barely knew how the liver got hurt in Alpha-1 patients. Now, we have a lot of knowledge about exactly what happens inside the liver to cause damage.”Finding a cure for Alpha-1 is still a long way off, because it involves changing a patient’s genes, which are the blueprint for the body.

“It’s like changing the blueprint for your house when it has already been built,” Dr. Teckman says. “That usually involves knocking down a wall or something really big.”For more information on Alpha-1 Antitrypsin Deficiency, visit www.alphaone.org, or www.cardinalglennon.com.

Dr. Bob Wilmott is Chief of Pediatrics at SSM Cardinal Glennon Children’s Medical Center and is a Professor of Pediatric Medicine at Saint Louis University School of Medicine. If you have a question about your child’s health, click here.